Skip to content
    Font Size
    A
    A
    A

    Porphyria, ALA-D

    Important
    It is possible that the main title of the report Porphyria, ALA-D is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    • ADP
    • ALA-dehydratase deficient porphyria
    • ALAD deficiency
    • Doss porphyria
    • porphyria of Doss
    • delta-aminolevulinate dehydratase deficiency

    Disorder Subdivisions

    • None

    General Discussion

    ALAD porphyria is an extremely rare genetic metabolic disease characterized by almost complete deficiency of the enzyme delta-aminolevulinic acid dehydratase. Deficiency of this enzyme leads to the accumulation of the porphyrin precursor delta-aminolevulinic acid, which can potentially result in a variety of symptoms. Specific symptoms can vary greatly from one person to another, but usually affect the neurological and gastrointestinal systems. This disease is inherited as an autosomal recessive disorder.

    ALAD porphyria is one of a group of disorders known as the porphyrias. The porphyrias are characterized by abnormally high levels of porphyrins and porphyrin precursors in the body due to deficiencies of certain enzymes essential to the creation (synthesis) of heme, a part of hemoglobin. There are at least seven types of porphyria. The symptoms associated with the various types of porphyria differ. It is important to note that people who have one type of porphyria do not develop any of the other types. Porphyrias are generally classified into two groups: the "hepatic" and "erythropoietic" types. Porphyrins and related substances originate in excess amounts from the liver in the hepatic types, and mostly from the bone marrow in the erythropoietic types. ALAD porphyria is a hepatic form of porphyria.

    Resources

    CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    176 Nantwich Road
    Crewe, CW2 6BG
    United Kingdom
    Tel: 4408452412173
    Fax: 4408452412174
    Email: enquiries@climb.org.uk
    Internet: http://www.CLIMB.org.uk

    American Porphyria Foundation
    4900 Woodway, Suite 780
    Houston, TX 77056-1837
    Tel: (713)266-9617
    Fax: (713)840-9552
    Tel: (866)273-3635
    Email: porphyrus@aol.com
    Internet: http://www.porphyriafoundation.com

    NIH/National Institute of Diabetes, Digestive & Kidney Diseases
    Office of Communications & Public Liaison
    Bldg 31, Rm 9A06
    31 Center Drive, MSC 2560
    Bethesda, MD 20892-2560
    Tel: (301)496-3583
    Email: NDDIC@info.niddk.nih.gov
    Internet: http://www2.niddk.nih.gov/

    MedicAlert Foundation International
    2323 Colorado Avenue
    Turlock, CA 95382
    USA
    Tel: (209)669-2401
    Fax: (209)669-2456
    Tel: (888)633-4298
    Email: Inquiries@medicalert.org
    Internet: http://www.medicalert.org

    British Porphyria Association
    136 Devonshire Rd
    Durham City, DH1 2BL
    United Kingdom
    Tel: 01474369231
    Email: helpline@porphyria.org.uk
    Internet: http://www.porphyria.org.uk

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 9/7/2010
    Copyright 1987, 1988, 1990, 1997, 2001, 2010 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

    Hot Topics

    WebMD Video: Now Playing

    Click here to wach video: Dirty Truth About Hand Washing

    Which sex is the worst about washing up? Why is it so important? We’ve got the dirty truth on how and when to wash your hands.

    Click here to watch video: Dirty Truth About Hand Washing

    Popular Slideshows & Tools on WebMD

    disciplining a boy
    Types, symptoms, causes.
    fruit drinks
    Eat these to think better.
    embarrassed woman
    Do you feel guilty after eating?
    diabetes supply kit
    Pack and prepare.
    Balding man in mirror
    Treatments & solutions.
    birth control pills
    Which kind is right for you?
    Remember your finger
    Are you getting more forgetful?
    sticky notes on face
    10 tips to clear your brain fog.
    Close up of eye
    12 reasons you're distracted.
    woman biting a big ice cube
    Habits that wreck your teeth.
    apple slices with peanut butter
    What goes best with workouts?
    Pink badge on woman chest to support breat cancer
    Myths and facts.

    Pollen counts, treatment tips, and more.

    It's nothing to sneeze at.

    Loading ...

    Sending your email...

    This feature is temporarily unavailable. Please try again later.

    Thanks!

    Now check your email account on your mobile phone to download your new app.

    Women's Health Newsletter

    Find out what women really need.